Bruce Gelb, MD
Professor & Dean for Child Health Research
Gogel Family Chair and Director of The Mindich Child Health & Development Institute
Director of the Center for Molecular Cardiology
Departments of Pediatrics and Genetics & Genomic Sciences
Icahn School of Medicine @ Mount Sinai
Department of Genetics
The RASopathies: Too much, too little and getting to just right
Talk abstract: Noonan syndrome and the related disorders, now called the RASopathies, are phenotypically related traits arising from perturbations, largely engendering gain of function, in the RAS/mitogen-activated protein kinase signal transduction pathway. In this lecture, insights gained from phenotype-first and genotype-first studies of the RAsopathies will be provided as well as those from cell and animal model research, informing the development of mechanistic therapies for these genetic traits.
Hosted by: Dr. Peter Jin
In-person only: Connor Auditorium (FLTC)